Incidental Mutation 'R6851:Slc13a4'
ID 534963
Institutional Source Beutler Lab
Gene Symbol Slc13a4
Ensembl Gene ENSMUSG00000029843
Gene Name solute carrier family 13 (sodium/sulfate symporters), member 4
Synonyms SUT-1, SUT1, 9630060C05Rik
MMRRC Submission 044955-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.887) question?
Stock # R6851 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 35244888-35285061 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35278668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 74 (S74P)
Ref Sequence ENSEMBL: ENSMUSP00000031868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031868]
AlphaFold Q8BZ82
Predicted Effect probably damaging
Transcript: ENSMUST00000031868
AA Change: S74P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031868
Gene: ENSMUSG00000029843
AA Change: S74P

DomainStartEndE-ValueType
Pfam:Na_sulph_symp 5 609 3.2e-105 PFAM
Pfam:CitMHS 45 166 1.1e-15 PFAM
Pfam:CitMHS 251 531 8.9e-18 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (41/41)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele display lethality before birth, impaired placental sulfate transport, failure of bone ossification, impaired vascular development, hemorrhaging, and cleft palate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,623,345 (GRCm39) C856S probably benign Het
Arrdc2 T C 8: 71,291,369 (GRCm39) E153G probably damaging Het
Cacna1d T C 14: 29,764,739 (GRCm39) D2033G probably damaging Het
Cacna1s G A 1: 136,020,432 (GRCm39) R823Q probably benign Het
Cracr2a A T 6: 127,585,679 (GRCm39) D159V probably damaging Het
Defa35 T C 8: 21,555,146 (GRCm39) I22T possibly damaging Het
Dgke T C 11: 88,943,309 (GRCm39) T227A probably benign Het
Efcab3 G A 11: 104,896,521 (GRCm39) R4290K probably benign Het
Firrm G A 1: 163,792,336 (GRCm39) R554C probably damaging Het
Galnt10 G A 11: 57,656,458 (GRCm39) R214Q probably damaging Het
Gpr180 T C 14: 118,391,037 (GRCm39) Y189H probably damaging Het
Hadh A G 3: 131,065,620 (GRCm39) S13P possibly damaging Het
Hcn2 T A 10: 79,564,947 (GRCm39) probably null Het
Irgm2 T C 11: 58,110,641 (GRCm39) S123P possibly damaging Het
Kcnv1 T A 15: 44,972,594 (GRCm39) I430F probably damaging Het
Kif13b G A 14: 65,010,514 (GRCm39) C1271Y probably damaging Het
Klhdc3 A T 17: 46,989,218 (GRCm39) I48N possibly damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Mprip T A 11: 59,649,841 (GRCm39) W1182R probably damaging Het
Mycbp2 A T 14: 103,497,630 (GRCm39) probably null Het
Or12e1 T A 2: 87,022,813 (GRCm39) S261T probably benign Het
Or1j11 T A 2: 36,311,832 (GRCm39) C141S probably damaging Het
Or8b51 A G 9: 38,569,481 (GRCm39) V69A probably benign Het
Or8h9 T C 2: 86,789,611 (GRCm39) T64A possibly damaging Het
Or9m1b T A 2: 87,836,300 (GRCm39) H265L probably damaging Het
Osbpl8 T A 10: 111,106,479 (GRCm39) Y295* probably null Het
Pex5 A G 6: 124,380,113 (GRCm39) S275P possibly damaging Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Sele G T 1: 163,881,521 (GRCm39) G543C probably damaging Het
Serpina3k A C 12: 104,311,625 (GRCm39) Y401S probably benign Het
Spata31d1a A G 13: 59,851,725 (GRCm39) L114P unknown Het
Syne1 G T 10: 5,212,703 (GRCm39) C3295* probably null Het
Tepsin G T 11: 119,987,787 (GRCm39) H44N probably damaging Het
Tpp1 A T 7: 105,398,919 (GRCm39) V170E probably damaging Het
Trav3-1 T C 14: 52,818,428 (GRCm39) V34A probably damaging Het
Tsbp1 A T 17: 34,679,146 (GRCm39) Y303F possibly damaging Het
Ush2a T C 1: 188,265,402 (GRCm39) V1642A probably benign Het
Vmn1r122 A G 7: 20,867,845 (GRCm39) I70T probably benign Het
Vmn2r96 A G 17: 18,802,800 (GRCm39) M237V possibly damaging Het
Wdr75 A G 1: 45,862,587 (GRCm39) E802G probably benign Het
Zan G A 5: 137,394,453 (GRCm39) T4462I unknown Het
Other mutations in Slc13a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Slc13a4 APN 6 35,266,759 (GRCm39) missense probably benign 0.01
IGL00975:Slc13a4 APN 6 35,251,910 (GRCm39) missense probably benign 0.18
IGL01069:Slc13a4 APN 6 35,245,817 (GRCm39) missense probably damaging 1.00
IGL01319:Slc13a4 APN 6 35,284,288 (GRCm39) splice site probably null
IGL01560:Slc13a4 APN 6 35,248,538 (GRCm39) splice site probably benign
IGL02125:Slc13a4 APN 6 35,255,223 (GRCm39) missense probably benign 0.23
IGL02415:Slc13a4 APN 6 35,260,172 (GRCm39) critical splice donor site probably null
IGL02888:Slc13a4 APN 6 35,245,775 (GRCm39) missense probably benign 0.10
R0047:Slc13a4 UTSW 6 35,264,297 (GRCm39) missense possibly damaging 0.84
R0047:Slc13a4 UTSW 6 35,264,297 (GRCm39) missense possibly damaging 0.84
R0532:Slc13a4 UTSW 6 35,264,339 (GRCm39) splice site probably null
R0747:Slc13a4 UTSW 6 35,255,263 (GRCm39) missense probably damaging 1.00
R1391:Slc13a4 UTSW 6 35,248,597 (GRCm39) missense probably damaging 0.96
R2106:Slc13a4 UTSW 6 35,264,799 (GRCm39) missense probably damaging 0.99
R2253:Slc13a4 UTSW 6 35,257,418 (GRCm39) missense probably benign 0.00
R3195:Slc13a4 UTSW 6 35,245,861 (GRCm39) missense probably damaging 1.00
R3689:Slc13a4 UTSW 6 35,245,845 (GRCm39) missense possibly damaging 0.87
R3698:Slc13a4 UTSW 6 35,251,892 (GRCm39) missense probably benign 0.06
R3785:Slc13a4 UTSW 6 35,264,827 (GRCm39) missense probably damaging 1.00
R3856:Slc13a4 UTSW 6 35,248,539 (GRCm39) splice site probably null
R5400:Slc13a4 UTSW 6 35,278,777 (GRCm39) nonsense probably null
R6142:Slc13a4 UTSW 6 35,278,718 (GRCm39) missense probably damaging 0.99
R6645:Slc13a4 UTSW 6 35,245,774 (GRCm39) missense probably benign 0.19
R7200:Slc13a4 UTSW 6 35,264,285 (GRCm39) missense possibly damaging 0.56
R7513:Slc13a4 UTSW 6 35,260,272 (GRCm39) splice site probably null
R7590:Slc13a4 UTSW 6 35,256,398 (GRCm39) missense possibly damaging 0.90
R7673:Slc13a4 UTSW 6 35,253,411 (GRCm39) missense probably damaging 1.00
R7706:Slc13a4 UTSW 6 35,247,290 (GRCm39) missense possibly damaging 0.92
R7971:Slc13a4 UTSW 6 35,248,695 (GRCm39) missense probably damaging 1.00
R8056:Slc13a4 UTSW 6 35,245,887 (GRCm39) missense probably damaging 1.00
R8428:Slc13a4 UTSW 6 35,245,814 (GRCm39) missense probably benign 0.21
R8486:Slc13a4 UTSW 6 35,247,304 (GRCm39) missense probably damaging 1.00
R8767:Slc13a4 UTSW 6 35,245,783 (GRCm39) missense probably benign 0.21
R8795:Slc13a4 UTSW 6 35,260,230 (GRCm39) missense probably benign 0.01
R9145:Slc13a4 UTSW 6 35,247,290 (GRCm39) missense possibly damaging 0.92
R9431:Slc13a4 UTSW 6 35,278,742 (GRCm39) missense probably damaging 1.00
Z1176:Slc13a4 UTSW 6 35,255,227 (GRCm39) missense probably damaging 0.96
Z1177:Slc13a4 UTSW 6 35,266,785 (GRCm39) missense probably damaging 0.98
Z1177:Slc13a4 UTSW 6 35,266,784 (GRCm39) missense possibly damaging 0.75
Predicted Primers PCR Primer
(F):5'- CAGACCAACTGCTGTTTCCTATAG -3'
(R):5'- GGTAACGAGTATCCCCATGAC -3'

Sequencing Primer
(F):5'- CTAGGGCTATATAAGGAGACCCTGTC -3'
(R):5'- GGTAACGAGTATCCCCATGACTAAGC -3'
Posted On 2018-09-12